MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 16 0.740 None 1.000 8 16 1997 2013
CUI: C1955858
Disease: Deaf-Blind Syndromes
Deaf-Blind Syndromes 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C4023340
Disease: Childhood onset sensorineural hearing impairment
Childhood onset sensorineural hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 20 0.010 None 1.000 1 1997 1997
CUI: C4022757
Disease: Moderate hearing impairment
Moderate hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 2 2 0.100 None 0 1
CUI: C4024656
Disease: Absent vestibular function
Absent vestibular function 		phenotype Finding 2 0.100 None 0
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2016 2016
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2002 2002
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease Disease or Syndrome 5 0.500 definitive 1.000 18 1956 2017
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease Disease or Syndrome 5 0.500 definitive 1.000 18 1956 2017
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2002 2002
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 6 4 0.100 None 0 1
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 135 0.930 None 0.987 78 135 1995 2017
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.400 None 1.000 17 1 1995 2017
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 16 0.320 None 1.000 3 2005 2016
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0206586
Disease: Endolymphatic Hydrops
Endolymphatic Hydrops 		disease Otorhinolaryngologic Diseases Disease or Syndrome 11 1 0.010 None < 0.001 1 2011 2011
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2011 2011
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		phenotype Finding 11 0.100 None 0
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 7 0.500 None 1.000 2 2005 2014
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 13 24 0.310 None 1.000 2 1996 2005
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		disease Disease or Syndrome 13 0.010 None 1.000 1 2011 2011
CUI: C1848606
Disease: Vestibular hypofunction
Vestibular hypofunction 		phenotype Finding 13 0.100 None 0
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 11 0.700 definitive 0.974 38 11 1956 2017
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 2 0.400 None 1.000 18 1996 2020